ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)

gnomAD frequency: 0.00009  dbSNP: rs368567109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806773 SCV000946790 likely benign Maple syrup urine disease 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534833 SCV003609431 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.1252G>A (p.A418T) alteration is located in exon 9 (coding exon 9) of the BCKDHA gene. This alteration results from a G to A substitution at nucleotide position 1252, causing the alanine (A) at amino acid position 418 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000806773 SCV003829808 uncertain significance Maple syrup urine disease 2019-01-31 criteria provided, single submitter clinical testing
GeneDx RCV005004437 SCV005628481 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001830757 SCV002088180 likely benign Maple syrup urine disease type 1A 2021-07-27 no assertion criteria provided clinical testing

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